14 research outputs found
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Migraine is a debilitating neurological disorder affecting around one in seven people worldwide, but its molecular mechanisms remain poorly understood. There is some debate about whether migraine is a disease of vascular dysfunction or a result of neuronal dysfunction with secondary vascular changes. Genome-wide association (GWA) studies have thus far identified 13 independent loci associated with migraine. To identify new susceptibility loci, we carried out a genetic study of migraine on 59,674 affected subjects and 316,078 controls from 22 GWA studies. We identified 44 independent single-nucleotide polymorphisms (SNPs) significantly associated with migraine risk (P < 5 Ă 10â8) that mapped to 38 distinct genomic loci, including 28 loci not previously reported and a locus that to our knowledge is the first to be identified on chromosome X. In subsequent computational analyses, the identified loci showed enrichment for genes expressed in vascular and smooth muscle tissues, consistent with a predominant theory of migraine that highlights vascular etiologies
Association between hypovitaminosis D and frequency of pulmonary exacerbations in children and adolescents with cystic fibrosis
Adaptação transcultural para o Brasil do instrumento Caregiver Abuse Screen (CASE) para detecção de violĂȘncia de cuidadores contra idosos Cross-cultural adaptation to Brazil of the instrument Caregiver Abuse Screen (CASE) for detection of abuse of the elderly by caregivers
Este artigo descreve a primeira parte da adaptação transcultural da versĂŁo em portuguĂȘs, para o Brasil, do Caregiver Abuse Screen (CASE), um instrumento simplificado para suspeição de violĂȘncia contra o idoso. O CASE foi originalmente desenvolvido no CanadĂĄ e utilizado para rastrear violĂȘncias em idosos entrevistando seus cuidadores. O processo de avaliação de equivalĂȘncias conceitual e de itens, que envolveu uma ampla e sistemĂĄtica revisĂŁo bibliogrĂĄfica, consistiu de uma discussĂŁo em grupo de expertos. A equivalĂȘncia semĂąntica envolveu duas traduçÔes e respectivas retraduçÔes em paralelo; uma avaliação de equivalĂȘncia de significados referencial e geral entre o CASE original e as versĂ”es em portuguĂȘs; discussĂ”es posteriores com o grupo de expertos para definir a versĂŁo final; e um prĂ©-teste com quarenta cuidadores de pacientes idosos em um serviço de atendimento ambulatorial de geriatria. Foi possĂvel estabelecer uma versĂŁo em portuguĂȘs para o Brasil com boa qualidade de equivalĂȘncia conceitual, de itens e semĂąntica. Embora os resultados aqui descritos sejam encorajadores, eles devem ser reavaliados Ă luz de evidĂȘncias psicomĂ©tricas (equivalĂȘncia de mensuração) que oportunamente serĂŁo apresentadas por este grupo de estudo.<br>This first of two papers focuses on the first part in the cross-cultural adaptation of the Portuguese-language version of Caregiver Abuse Screen (CASE), a brief instrument for detecting domestic violence against the elderly. CASE was originally developed in Canada and used to screen violence against the elderly by interviewing their caregivers. Besides a broad literature review, the evaluation of conceptual and item equivalences involved expert discussion groups. Semantic equivalence included the following steps: two translations and respective back-translations; an evaluation of referential and general (connotative) equivalence between the original instrument and each version; further discussions with experts in order to define the final version; and pre-testing the latter in 40 caregivers of elderly subjects in an outpatient geriatric clinic. It was possible to establish high-quality conceptual, item, and semantic equivalence for the Portuguese-language version. Although the results shown here were encouraging, they should be reevaluated in light of a forthcoming psychometric analysis (measurement equivalence) to be performed by the research group
Relevance of Vitamin D Receptor Target Genes for Monitoring the Vitamin D Responsiveness of Primary Human Cells
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Associations of vitamin D status with dietary intakes and physical activity levels among adults from seven European countries: the Food4Me study
To report the vitamin D status in adults from seven European countries and to identify behavioural correlates. In total, 1075 eligible adult men and women from Ireland, Netherlands, Spain, Greece, UK, Poland and Germany, were included in the study. Vitamin D deficiency and insufficiency, defined as 25-hydroxy vitamin D3 (25-OHD3) concentration of <30 and 30-49.9Â nmol/L, respectively, were observed in 3.3 and 30.6% of the participants. The highest prevalence of vitamin D deficiency was found in the UK and the lowest in the Netherlands (8.2 vs. 1.1%, Pâ<â0.05). In addition, the prevalence of vitamin D insufficiency was higher in females compared with males (36.6 vs. 22.6%, Pâ<â0.001), in winter compared with summer months (39.3 vs. 25.0%, Pâ<â0.05) and in younger compared with older participants (36.0 vs. 24.4%, Pâ<â0.05). Positive dose-response associations were also observed between 25-OHD3 concentrations and dietary vitamin D intake from foods and supplements, as well as with physical activity (PA) levels. Vitamin D intakes of â„5Â ÎŒg/day from foods and â„5Â ÎŒg/day from supplements, as well as engagement in â„30Â min/day of moderate- and vigorous-intensity PA were associated with higher odds (Pâ<â0.05) for maintaining sufficient (â„50Â nmol/L) 25-OHD3 concentrations. The prevalence of vitamin D deficiency varied considerably among European adults. Dietary intakes of â„10Â ÎŒg/day of vitamin D from foods and/or supplements and at least 30Â min/day of moderate- and vigorous-intensity PA were the minimum thresholds associated with vitamin D sufficiency